Carrier screening – preconception and early pregnancy
RACGP provides a number of resources, fact sheets and on-line module regarding carrier screening
Click here to access these resources
Prenatal Screening
All women, regardless of age should be counselled and offered the option for screening for chromosomal anomalies.
Antenatal Shared Care GPs can refer women directly to the Fetal Medicine Unit (Phone: 9515 6042) for the following tests:
- Combined First Trimester Screening (cFTS)
- Non-Invasive Prenatal Screening (NIPT)
- Chorionic Villus Sampling (CVS)
- Aminocentesis
A referral form (Feb 2022) is required to be completed for referral for these tests. Women should contact FMU to arrange appointment Ph: 9515 6042. GPs can contact service i.e follow-up results etc via email SLHD-RPAHFetalMedicineUltrasound@health.nsw.gov.au
Timing of procedures
The Fetal Medicine Unit (FMU) at RPA Women and Babies routinely offers Combined First Trimester Screening (cFTS): ultrasound scan (nuchal translucency and nasal bone) plus biochemistry to pregnant women booking for delivery at RPA Women and Babies and Canterbury Hospitals
Referral for cFTS:
Access to Non-Invasive Prenatal Testing (NIPT) will be as a second line screening tool for women at high or intermediate level of risk after cFTS. The NIPT test is not available through Medicare and women will have to fund this test themselves. For further information contact the RPA Genetic Counsellors ph 9515 5080 or Fetal Medicine Unit ph 9515 6042
Resources
GP Information Sheet – First trimester screening for prediction and prevention of preterm preeclampsia
NSW Health: Centre for Genetics Education
Patient Brochures- RPA Women and Babies including Screening for preterm pre-eclampsia, cFTS, NIPT, CVS
Patient Brochure- Prenatal testing booklet – NSW Health : Centre for Genetics Education
RACGP – Genomics in general practice
RACGP – Reproductive carrier testing
First Trimester Sceening Learning Module: NSW Centre For Genetics: On-line education module
Search for Certified Operators to perform Nuchal Translucency – RANZCOG Nuchal Translucency: Ultrasound, education and monitoring program
Translated material regarding genetics, prenatal testing and pregnancy are located at the Multicultural Health Communication Service – NSW Health.